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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for IQGAP1 |
 Gene summary |
| Gene information | Gene symbol | IQGAP1 | Gene ID | 8826 |
| Gene name | IQ motif containing GTPase activating protein 1 | |
| Synonyms | HUMORFA01|SAR1|p195 | |
| Cytomap | 15q26.1 | |
| Type of gene | protein-coding | |
| Description | ras GTPase-activating-like protein IQGAP1RasGAP-like with IQ motifs | |
| Modification date | 20200327 | |
| UniProtAcc | ||
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| IQGAP1 | GO:0071277 | cellular response to calcium ion | 18567582 |
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Gene structures and expression levels for IQGAP1 |
| Skipped exons in the ROSMAP, MSBB, and Mayo based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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ENSG00000140575
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| PCC | UP | ENST00000560418.1 | IQGAP1-212:protein_coding:IQGAP1 | 2.201553e+00 | 1.219877e+00 | 2.915684e-05 | 2.667738e-03 |
| HCC | UP | ENST00000561086.1 | IQGAP1-215:retained_intron:IQGAP1 | 4.405709e+01 | 1.382462e+00 | 4.134827e-05 | 3.803492e-03 |
| STG | UP | ENST00000633485.1 | IQGAP1-218:nonsense_mediated_decay:IQGAP1 | 2.334921e+02 | 8.073788e-01 | 3.123023e-04 | 2.110808e-02 |
| PG | UP | ENST00000268182.10 | IQGAP1-201:protein_coding:IQGAP1 | 8.538727e+02 | 8.058659e-01 | 6.118002e-16 | 4.117165e-12 |
| PG | UP | ENST00000559674.1 | IQGAP1-206:retained_intron:IQGAP1 | 2.296170e+01 | 1.274471e+00 | 4.641238e-07 | 4.939899e-05 |
| PG | UP | ENST00000560418.1 | IQGAP1-212:protein_coding:IQGAP1 | 6.915100e+00 | 8.986337e-01 | 3.763739e-05 | 1.331801e-03 |
| PG | UP | ENST00000559031.1 | IQGAP1-205:retained_intron:IQGAP1 | 1.639845e+01 | 9.870515e-01 | 2.203915e-04 | 4.890465e-03 |
| CB | UP | ENST00000560218.1 | IQGAP1-210:retained_intron:IQGAP1 | 1.697595e+00 | 8.626888e-01 | 8.938204e-03 | 3.172000e-02 |
| TC | UP | ENST00000268182.10 | IQGAP1-201:protein_coding:IQGAP1 | 2.059306e+03 | 9.331752e-01 | 2.642366e-14 | 1.540141e-11 |
| TC | UP | ENST00000560418.1 | IQGAP1-212:protein_coding:IQGAP1 | 5.511924e+00 | 1.199828e+00 | 3.149256e-08 | 2.344151e-06 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for IQGAP1 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_108132 | chr15 | 90482197:90482281:90482702:90482749:90483361:90483593 | 90482702:90482749 |
| exon_skip_165635 | chr15 | 90492545:90492711:90494713:90494835:90497232:90497340 | 90494713:90494835 |
| exon_skip_195733 | chr15 | 90440502:90440615:90441506:90441684:90443394:90443478 | 90441506:90441684 |
| exon_skip_233409 | chr15 | 90390774:90390873:90426110:90426266:90429589:90429666 | 90426110:90426266 |
| exon_skip_377 | chr15 | 90466047:90466091:90466269:90466436:90467450:90467592 | 90466269:90466436 |
| exon_skip_41313 | chr15 | 90429589:90429666:90431221:90431252:90433719:90433795 | 90431221:90431252 |
| exon_skip_42273 | chr15 | 90482197:90482281:90482702:90482749:90483361:90483370 | 90482702:90482749 |
| exon_skip_57896 | chr15 | 90441506:90441684:90443394:90443478:90448573:90448736 | 90443394:90443478 |
| exon_skip_63693 | chr15 | 90388355:90388396:90390774:90390873:90426110:90426266 | 90390774:90390873 |
| exon_skip_68554 | chr15 | 90439332:90439399:90440502:90440615:90441506:90441684 | 90440502:90440615 |
| exon_skip_97668 | chr15 | 90474064:90474133:90474485:90474693:90476663:90476818 | 90474485:90474693 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
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| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
| exon_skip_108132 | Mayo_TC | 1.889024e-01 | 3.342466e-01 | -1.453441e-01 | 7.963349e-07 |
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Open reading frame (ORF) annotation in the exon skipping event for IQGAP1 |
| Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000268182 | 90441506 | 90441684 | Frame-shift |
| ENST00000268182 | 90443394 | 90443478 | Frame-shift |
| ENST00000268182 | 90494713 | 90494835 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000268182 | 90441506 | 90441684 | Frame-shift |
| ENST00000268182 | 90466269 | 90466436 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000268182 | 90426110 | 90426266 | Frame-shift |
| ENST00000268182 | 90441506 | 90441684 | Frame-shift |
| ENST00000268182 | 90474485 | 90474693 | Frame-shift |
| ENST00000268182 | 90440502 | 90440615 | In-frame |
| ENST00000268182 | 90494713 | 90494835 | In-frame |
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Infer the effects of exon skipping event on protein functional features for IQGAP1 |
p-ENSG00000140575_img4.png |
| Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000268182 | 7250 | 1657 | 90494713 | 90494835 | 4754 | 4875 | 1543 | 1583 |
| Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000268182 | 7250 | 1657 | 90466269 | 90466436 | 1993 | 2159 | 623 | 678 |
| Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000268182 | 7250 | 1657 | 90440502 | 90440615 | 661 | 773 | 179 | 216 |
| ENST00000268182 | 7250 | 1657 | 90494713 | 90494835 | 4754 | 4875 | 1543 | 1583 |
| Lost protein functional features of individual exon skipping events in ROSMAP. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| P46940 | 1543 | 1583 | 1561 | 1564 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1X0H |
| P46940 | 1543 | 1583 | 1572 | 1577 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1X0H |
| P46940 | 1543 | 1583 | 2 | 1657 | Chain | ID=PRO_0000056648;Note=Ras GTPase-activating-like protein IQGAP1 |
| P46940 | 1543 | 1583 | 1565 | 1571 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1X0H |
| P46940 | 1543 | 1583 | 1583 | 1587 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1X0H |
| P46940 | 1543 | 1583 | 1276 | 1657 | Region | Note=C2 |
| Lost protein functional features of individual exon skipping events in MSBB. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| P46940 | 623 | 678 | 2 | 1657 | Chain | ID=PRO_0000056648;Note=Ras GTPase-activating-like protein IQGAP1 |
| Lost protein functional features of individual exon skipping events in Mayo. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| P46940 | 179 | 216 | 2 | 1657 | Chain | ID=PRO_0000056648;Note=Ras GTPase-activating-like protein IQGAP1 |
| P46940 | 179 | 216 | 179 | 190 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5L0O |
| P46940 | 179 | 216 | 199 | 201 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RR8 |
| P46940 | 179 | 216 | 206 | 208 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RR8 |
| P46940 | 1543 | 1583 | 1561 | 1564 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1X0H |
| P46940 | 1543 | 1583 | 1572 | 1577 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1X0H |
| P46940 | 1543 | 1583 | 2 | 1657 | Chain | ID=PRO_0000056648;Note=Ras GTPase-activating-like protein IQGAP1 |
| P46940 | 1543 | 1583 | 1565 | 1571 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1X0H |
| P46940 | 1543 | 1583 | 1583 | 1587 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1X0H |
| P46940 | 1543 | 1583 | 1276 | 1657 | Region | Note=C2 |
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3'-UTR located exon skipping events that lost miRNA binding sites in IQGAP1 |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for IQGAP1 |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
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AD stage-associated exon skippint events for IQGAP1 |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
| CDR | MSBB | IFG | exon_skip_41313 | 4.005295e-01 | 3.467697e-02 | chr15 | + | 90429589 | 90429666 | 90431221 | 90431252 | 90433719 | 90433795 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for IQGAP1 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| HCC | exon_skip_41313 | rs2238325 | chr15:90468030 | 7.589808e-06 | 9.905885e-04 |
| HCC | exon_skip_41313 | rs11853271 | chr15:90482598 | 8.207695e-06 | 1.059702e-03 |
| HCC | exon_skip_41313 | rs6496675 | chr15:90439524 | 3.541331e-05 | 3.763375e-03 |
| HCC | exon_skip_41313 | rs6496678 | chr15:90491224 | 3.696433e-05 | 3.896347e-03 |
| HCC | exon_skip_41313 | rs10438436 | chr15:90365549 | 4.103251e-05 | 4.251765e-03 |
| HCC | exon_skip_41313 | rs8039719 | chr15:90415352 | 4.197232e-05 | 4.328050e-03 |
| HCC | exon_skip_41313 | rs2238320 | chr15:90429209 | 4.197232e-05 | 4.328050e-03 |
| HCC | exon_skip_41313 | rs8027211 | chr15:90440474 | 4.197232e-05 | 4.328050e-03 |
| HCC | exon_skip_41313 | rs8039288 | chr15:90457213 | 4.197232e-05 | 4.328050e-03 |
| HCC | exon_skip_41313 | rs16944212 | chr15:90344817 | 4.458471e-05 | 4.568293e-03 |
| HCC | exon_skip_41313 | rs16944424 | chr15:90440233 | 4.471244e-05 | 4.580118e-03 |
| HCC | exon_skip_41313 | rs8030390 | chr15:90400239 | 4.830802e-05 | 4.902513e-03 |
| HCC | exon_skip_41313 | rs4412956 | chr15:90342485 | 5.310266e-05 | 5.315111e-03 |
| HCC | exon_skip_41313 | rs1971898 | chr15:90347604 | 8.491351e-05 | 7.943184e-03 |
| HCC | exon_skip_41313 | rs3803538 | chr15:90348539 | 8.491351e-05 | 7.943184e-03 |
| HCC | exon_skip_41313 | rs3803539 | chr15:90348750 | 8.491351e-05 | 7.943184e-03 |
| HCC | exon_skip_41313 | rs6496669 | chr15:90352033 | 8.491351e-05 | 7.943184e-03 |
| HCC | exon_skip_41313 | rs8042825 | chr15:90354653 | 8.491351e-05 | 7.943184e-03 |
| HCC | exon_skip_41313 | rs8023776 | chr15:90354720 | 8.491351e-05 | 7.943184e-03 |
| HCC | exon_skip_41313 | rs16944500 | chr15:90483741 | 9.624538e-05 | 8.829949e-03 |
| HCC | exon_skip_41313 | rs16944518 | chr15:90491852 | 1.286686e-04 | 1.132403e-02 |
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Correlation with RNA binding proteins (RBPs) for IQGAP1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | RALYL | exon_skip_108132 | 4.608565e-01 | 4.258048e-09 |
| PG | ELAVL4 | exon_skip_108132 | 5.579934e-01 | 1.474697e-14 |
| PG | RALYL | exon_skip_108132 | 5.566176e-01 | 1.764155e-14 |
| PG | CELF1 | exon_skip_108132 | 4.434168e-01 | 3.842620e-09 |
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RelatedDrugs for IQGAP1 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for IQGAP1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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